IRCCS Centro Neurolesi "Bonino-Pulejo", Via Provinciale Palermo, Contrada Casazza, 98124 Messina, Italy.
Int J Mol Sci. 2023 Jan 11;24(2):1448. doi: 10.3390/ijms24021448.
Multiple Sclerosis (MS) is, to date, an incurable disease of the nervous system characterized by demyelination. Several genetic mutations are associated with the disease but they are not able to explain all the diagnosticated cases. Thus, it is suggested that altered gene expression may play a role in human pathologies. In this review, we explored the role of the transcriptomic profile in MS to investigate the main altered biological processes and pathways involved in the disease. Herein, we focused our attention on RNA-seq methods that in recent years are producing a huge amount of data rapidly replacing microarrays, both with bulk and single-cells. The studies evidenced that different MS stages have specific molecular signatures and non-coding RNAs may play a key role in the disease. Sex-dependence was observed before and after treatments used to alleviate symptomatology activating different biological processes in a drug-dependent manner. New pathways, such as neddylation, were found deregulated in MS and inflammation was linked to neuron degeneration areas through spatial transcriptomics. It is evident that the use of RNA-seq in the study of complex pathologies, such as MS, is a valid strategy to shed light on new involved mechanisms.
多发性硬化症（MS）是一种至今无法治愈的神经系统疾病，其特征是脱髓鞘。有几种基因突变与该疾病有关，但它们并不能解释所有确诊的病例。因此，有人认为基因表达的改变可能在人类病理中发挥作用。在这篇综述中，我们探讨了转录组谱在多发性硬化症中的作用，以研究涉及该疾病的主要改变的生物学过程和途径。在此，我们重点关注 RNA-seq 方法，近年来，该方法正在快速产生大量数据，迅速取代了微阵列，无论是在批量还是单细胞中。这些研究表明，不同的多发性硬化症阶段具有特定的分子特征，非编码 RNA 可能在疾病中发挥关键作用。在用于缓解症状的治疗之前和之后观察到性别依赖性，以药物依赖的方式激活不同的生物学过程。在多发性硬化症中发现新的途径，如 neddylation 失调，炎症通过空间转录组学与神经元变性区域相关。显然，在研究复杂的病理，如多发性硬化症时，使用 RNA-seq 是揭示新的参与机制的有效策略。
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